| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome | |
Click to view in NCBI Gene